Varaico: Literature-Extracted Genetic Variants

Gene:CCPG1
Variant:p.L347*

CCPG1

75 papers

Pfam Domains

CCPG1_Naa 232–344UCSCCCPG1 N-terminal domain
CCPG1_Caa 633–735UCSCCCPG1 C-terminal domain

Gene Aliases

HGNC Name

cell cycle progression 1

HGNC Alias Symbols

KIAA1254; CPR8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001204450.2
p.L347*
c.1040T>A
Surrounding Variants
1 paper
NM_001204450.2
p.L347*
c.1040T>G
1 paper
NM_001204450.2
p.E346_L347del1
c.1038_1040delAAT
1 paper
NM_001204450.2
p.D340Y
c.1018G>T
1 paper
NM_001204450.2
p.K362R
c.1085A>G
1 paper
NM_001204450.2
p.Q363K
c.1087C>A
1 paper
NM_001204450.2
p.E373*
c.1117G>T
1 paper
NM_001204450.2
p.L376L
c.1126T>C
2 papers
NM_001204450.2
p.L314L
c.940T>C
1 paper
NM_001204450.2
p.E389A
c.1166A>C
1 paper
NM_001204450.2
p.E292G
c.875A>G
1 paper
NM_001204450.2
p.G405D
c.1214G>A
1 paper
NM_001204450.2
p.R284_C285delFs
c.852_855del4
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